Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
ROU
|
0
|
3
|
No
|
Rigidity
Delayed motor development Upper limb dystonia Tremor, action Developmental regression Intellectual developmental disorder Cognitive impairment Postural instability Dystonia, limb Hypotonia Decreased body weight Developmental delay Parkinsonism Short stature Lower limb dystonia Tremor (any or unspecified) Dystonia (any or unspecified) Bradykinesia Myoclonus Dystonia/Parkinsonism Dystonia, segmental/multifocal Show more (+18) |
Developmental delay
Myoclonus |